SP100 Gene
SP100 Nuclear Antigen
Gene Information Card
| Symbol | SP100 |
|---|---|
| Full Name | SP100 Nuclear Antigen |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 6672 ncbi.nlm.nih.gov/gene/6672 |
| Ensembl ID | ENSG00000167004 |
| UniProt ID | P23497 |
| OMIM ID | 604402 |
| HGNC ID | 11206 |
| Aliases | SP100-H1, SP100-H2, SP100-H3, LEU5, LYSP100-A, LYSP100-B |
Description
The SP100 gene encodes a nuclear antigen that is a component of nuclear bodies (PML bodies). It is involved in transcriptional regulation, chromatin organization, and immune responses. SP100 is frequently targeted by autoantibodies in primary biliary cirrhosis and other autoimmune disorders. The gene produces multiple splice variants that may have distinct functions in cell signaling and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary biliary cirrhosis | Autoantibody targeting SP100 protein | Serological marker |
| Promyelocytic leukemia | Interaction with PML protein in nuclear bodies | Altered expression in leukemia cells |
| Breast cancer | Dysregulation of SP100 expression | Gene expression studies |
| Systemic lupus erythematosus | Autoantibody reactivity | Case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Lung | 6.3 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical carcinoma |
| K-562 | 12.1 | Leukemia |
| A549 | 9.7 | Lung carcinoma |
| HepG2 | 7.4 | Hepatocellular carcinoma |
| MCF7 | 6.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Pro412Ser, uncertain significance |
| c.567_568del | Frameshift | <0.01% | Loss of function |
| c.890A>G | Missense | 0.01% | p.Asn297Ser, benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein and loss of nuclear body localization.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0016605 (GO:0016605) |
| • GO:0003677 (GO:0003677) | • GO:0003712 (GO:0003712) |
| • GO:0006355 (GO:0006355) | • GO:0042802 (GO:0042802) |
Pathways
• Interferon signaling
• PML nuclear body assembly
• Transcriptional regulation by SP100
Protein Summary
SP100 is a 885-amino acid nuclear protein that localizes to PML nuclear bodies. It contains a HIN-200 domain and a coiled-coil region, mediating interactions with PML and other nuclear factors. SP100 functions as a transcriptional regulator, modulating chromatin structure and gene expression. It is induced by interferons and plays a role in antiviral defense and autoimmunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP100 Knockout HEK293 Cell Line | EDJ-KQ5833 | Human | 6672 | Details Get a Quote |
| SP100 Knockout A-549 Cell Line | EDJ-KQ28018 | Human | 6672 | Details Get a Quote |
| SP100 Knockout HCT 116 Cell Line | EDJ-KQ29278 | Human | 6672 | Details Get a Quote |
| SP100 Knockout HeLa Cell Line | EDJ-KQ29279 | Human | 6672 | Details Get a Quote |
